722110003: syndrome d'ostéogenèse imparfaite-rétinopathie-épilepsie-déficience intellectuelle (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\trouble convulsif\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \constatation fonctionnelle\Abnormal bone formation\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Abnormal bone formation\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \Neurological finding\Seizure related finding\convulsion\trouble convulsif\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3330731014	Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330732019	Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330733012	Al Gazali Nair syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
758281000241110	syndrome d'ostéogenèse imparfaite-rétinopathie-épilepsie-déficience intellectuelle (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
895831000172116	syndrome d'Al Gazali-Nair	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
997731000172111	syndrome d'ostéogenèse imparfaite-rétinopathie-épilepsie-déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3330734018	This syndrome has characteristics of osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two siblings born to consanguineous parents.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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